SLC52A3 (solute carrier family 52 member 3)

2010-10-01  

Identity

HGNC
LOCATION
20p13
LOCUSID
ALIAS
BVVLS,BVVLS1,C20orf54,RFT2,RFVT3,bA371L19.1,hRFT2

Other Information

Locus ID:

NCBI: 113278
MIM: 613350
HGNC: 16187
Ensembl: ENSG00000101276

Variants:

dbSNP: 113278
ClinVar: 113278
TCGA: ENSG00000101276
COSMIC: SLC52A3

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000101276ENST00000217254Q9NQ40
ENSG00000101276ENST00000381944Q9NQ40
ENSG00000101276ENST00000488495Q9NQ40
ENSG00000101276ENST00000645534Q9NQ40

Expression (GTEx)

0
10
20
30
40
50
60
70
80

Pathways

PathwaySourceExternal ID
Vitamin digestion and absorptionKEGGko04977
Vitamin digestion and absorptionKEGGhsa04977
MetabolismREACTOMER-HSA-1430728
Metabolism of vitamins and cofactorsREACTOMER-HSA-196854
Metabolism of water-soluble vitamins and cofactorsREACTOMER-HSA-196849
Vitamin B2 (riboflavin) metabolismREACTOMER-HSA-196843

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
207298532010Genome-wide association study of esophageal squamous cell carcinoma in Chinese subjects identifies susceptibility loci at PLCE1 and C20orf54.155
207298532010Genome-wide association study of esophageal squamous cell carcinoma in Chinese subjects identifies susceptibility loci at PLCE1 and C20orf54.155
202063312010Brown-Vialetto-Van Laere syndrome, a ponto-bulbar palsy with deafness, is caused by mutations in c20orf54.52
191222052009Identification and functional characterization of rat riboflavin transporter 2.43
235069022013Novel riboflavin transporter family RFVT/SLC52: identification, nomenclature, functional characterization and genetic diseases of RFVT/SLC52.28
207244882010Functional characteristics of the human ortholog of riboflavin transporter 2 and riboflavin-responsive expression of its rat ortholog in the small intestine indicate its involvement in riboflavin absorption.22
215121562011Role of cysteine residues in cell surface expression of the human riboflavin transporter-2 (hRFT2) in intestinal epithelial cells.13
294289662018SLC52A3 expression is activated by NF-κB p65/Rel-B and serves as a prognostic biomarker in esophageal cancer.12
250458442014RFT2 is overexpressed in esophageal squamous cell carcinoma and promotes tumorigenesis by sustaining cell proliferation and protecting against cell death.11
227180202012Four novel C20orf54 mutations identified in Brown-Vialetto-Van Laere syndrome patients.10

Citation

Dessen P

SLC52A3 (solute carrier family 52 member 3)

Atlas Genet Cytogenet Oncol Haematol. 2010-10-01

Online version: http://atlasgeneticsoncology.org/gene/51683/slc52a3